ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830433557
Gene: MITF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2662014
ClinVar RCV Id:
RCV003443509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937821.2:p.Ala232Thr
CA77003517
NM_198178.3:c.694G>A